Canonical Allele Identifier: CA3727950
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs12614
gnomAD v2: 6-31914179-C-G
gnomAD v4: 6-31946402-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946402C>G , CM000668.2:g.31946402C>G GRCh38
NC_000006.11:g.31914179C>G , CM000668.1:g.31914179C>G GRCh37
NC_000006.10:g.32022158C>G NCBI36
NG_008191.1:g.5459C>G , LRG_136:g.5459C>G
NG_011730.1:g.23914C>G , LRG_26:g.23914C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.271C>G
ENST00000483004.2:c.94C>G ENSP00000419887.2:p.Arg32Gly
ENST00000497841.6:c.94C>G ENSP00000513847.1:p.Arg32Gly
ENST00000698628.1:c.94C>G ENSP00000513848.1:p.Arg32Gly
ENST00000698629.1:n.271C>G
ENST00000698630.1:n.255C>G
ENST00000698631.1:n.250C>G
ENST00000698632.1:n.222C>G
ENST00000698633.1:n.192C>G
ENST00000698636.1:n.316C>G
ENST00000425368.7:c.94C>G MANE Select ENSP00000416561.2:p.Arg32Gly
ENST00000425368.6:c.94C>G ENSP00000416561.2:p.Arg32Gly
ENST00000452035.6:n.94C>G
ENST00000456570.5:c.1600C>G ENSP00000410815.1:p.Arg534Gly
ENST00000460718.5:c.65-84C>G ENSP00000417793.1:n.65-84C>G
ENST00000472581.1:n.341C>G
ENST00000475617.5:c.94C>G ENSP00000420090.1:p.Arg32Gly
ENST00000477310.1:c.1352-605C>G ENSP00000418996.1:n.1352-605C>G
NM_001710.5:c.94C>G , LRG_136t1:c.94C>G NP_001701.2:p.Arg32Gly
NM_001710.6:c.94C>G MANE Select NP_001701.2:p.Arg32Gly